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autosomal dominant Emery-Dreifuss muscular dystrophy 4 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal dominant Emery-Dreifuss muscular dystrophy 4
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Accession:DOID:0070249 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. (DO)
Synonyms:exact_synonym: EDMD4;   Emery-Dreifuss muscular dystrophy 4;   Emery-Dreifuss muscular dystrophy 4 with variable features
 primary_id: MESH:C567831
 alt_id: MIM:612998

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autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		JBrowse link
G G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G P ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G S Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G D ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544 		JBrowse link
G B ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G C Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353 		JBrowse link
G R Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G M Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G H ESR1 estrogen receptor 1 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G H LOC126859836 MED14-independent group 3 enhancer GRCh37_chr6:152542272-152543471 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:152,221,137...152,222,336 JBrowse link
G H LOC126859837 BRD4-independent group 4 enhancer GRCh37_chr6:152630775-152631974 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:27086870 PMID:27178001 PMID:28492532 More... NCBI chr 6:152,309,640...152,310,839 JBrowse link
G H LOC126859838 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:152706655-152707854 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr 6:152,385,520...152,386,719 JBrowse link
G H LOC129997480 ATAC-STARR-seq lymphoblastoid active region 25287 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:152,301,830...152,302,229 JBrowse link
G N Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chrNW_004624785:5,647,041...6,144,065 JBrowse link
G G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr13:79,572,233...80,104,951
Ensembl chr13:79,572,936...79,988,893 		JBrowse link
G P SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr 1:13,715,644...14,201,711 JBrowse link
G S Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
G D SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr 1:42,384,136...42,831,229
Ensembl chr 1:42,384,038...42,823,388 		JBrowse link
G B SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076 		JBrowse link
G C Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chrNW_004955439:9,131,227...9,574,112 JBrowse link
G R Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G M Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
G H SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant		 OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G H SYNE1-AS1 SYNE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:152,380,530...152,381,713
Ensembl chr 6:152,380,489...152,381,777 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                autosomal dominant Emery-Dreifuss muscular dystrophy 4 25
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        peripheral nervous system disease 45985
          neuropathy 43737
            neuromuscular disease 33680
              muscular disease 23373
                muscle tissue disease 14455
                  myopathy 10826
                    muscular dystrophy 6687
                      Emery-Dreifuss muscular dystrophy 1374
                        autosomal dominant Emery-Dreifuss muscular dystrophy 4 25
paths to the root